Publications by authors named "Mehmet B Mutlu"

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A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism.
Sabri Aynacı, Sinem Kocagil, Coşkun Yarar, Efsun Tosumoğlu, Ebru Erzurumluoğlu Gökalp, Mehmet Burak Mutlu

Mol Syndromol· December 2025

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Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.
Aslihan Sanri, Tugba Kontbay Cetin, Emel Gul Acikgoz, Mehmet Burak Mutlu, Ozlem Sezer

Pediatr Diabetes· December 2025

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Viral diversity of brine and precipitated halite of Tuz Lake, an inland hypersaline lake in Turkey.
Ece Senel, María Dolores Ramos-Barbero, Fernando Santos, Judith Villamor, Mehmet Burcin Mutlu

Arch Virol· December 2025

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Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis.
Simge Erdem, Ayşe Gül Bayrak Tokaç, Aynur Aday, Dilan Karaca, Mehmet Burak Mutlu

BMC Cancer· November 2025

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Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.
Aslihan Sanri, Mehmet Burak Mutlu, Ozlem Sezer

Cytogenet Genome Res· November 2025

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Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.
Aslihan Sanri, Mehmet Burak Mutlu

Mol Syndromol· October 2025

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variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, Guy Helman, Leslie E Sanderson, Mehmet Burak Mutlu

medRxiv· July 2025

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Optical Genome Mapping as a New Approach to Detecting Cytogenetic Abnormalities: Why Is It Difficult in Multiple Myeloma?
Ayşe Gül Bayrak Tokaç, Mehmet Burak Mutlu, Simge Erdem, Aynur Aday

Turk J Haematol· May 2025

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A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.
Aslihan Kiraz, Murat Erdogan, Burhan Balta, Hakan Gumus, Mehmet Burak Mutlu

Neurogenetics· May 2025

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Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Gene: Case Series and Literature Review.
Hatice Ağır, İsmihan Sunar, Mehmet Burak Mutlu

Mol Syndromol· May 2025

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Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Veysel Gök, Alper Ozcan, Fatma Türkan Mutlu, Ebru Yılmaz, Deniz Kocak Göl, Mehmet Burak Mutlu

Res Pract Thromb Haemost· May 2025

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Utility of Optical Genome Mapping in Repeat Disorders.
Mehmet Burak Mutlu, Taner Karakaya, Hamide Betül Gerik Çelebi, Fahrettin Duymuş, Serhat Seyhan

Clin Genet· February 2025

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Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method.
Fethiye Kılıçaslan, Özlem Öz, Mehmet Burak Mutlu

Int J Dev Neurosci· February 2025

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Global dominance of Haloquadratum walsbyi by a single genomovar with distinct gene content and viral cohorts from close relatives.
Esteban Bustos-Caparros, Tomeu Viver, Juan F Gago, Juanita R Avontuur, Souad Amiour, Mehmet B Mutlu

ISME J· January 2025

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Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.
Hatice Yelda Yalçın, Tayfun Cinleti, Servet Yel, Mehmet Burak Mutlu

Mol Syndromol· June 2024

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YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review.
Aslihan Sanri, Mehmet Burak Mutlu, Ozlem Sezer

Eur J Med Genet· June 2023

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Whole-genome sequencing and genome-scale metabolic modeling of Chromohalobacter canadensis 85B to explore its salt tolerance and biotechnological use.
Blaise Manga Enuh, Belma Nural Yaman, Chaimaa Tarzi, Pınar Aytar Çelik, Mehmet Burçin Mutlu

Microbiologyopen· October 2022

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Microwave assisted synthesis, experimental and theoretical characterization and antibacterial activity screening of novel azomethine compounds containing thiophene and aminophenol functionality.
Emel Ermiş, Atakan Aydın, Hakan Ünver, Suat Sezen, Mehmet Burçin Mutlu

Spectrochim Acta A Mol Biomol Spectrosc· December 2020

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Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.
Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz

Congenit Anom (Kyoto)· January 2018

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A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
Mehmet Burak Mutlu, Arda Cetinkaya, Nermin Koc, Gulay Ceylaner, Bekir Erguner

Eur J Med Genet· November 2016

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Comparative analysis of prokaryotic diversity in solar salterns in eastern Anatolia (Turkey).
Seval Çınar, Mehmet Burçin Mutlu

Extremophiles· September 2016

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Bacterial Diversity in Çamalti Saltern, Turkey.
Mehmet Burçin Mutlu, Kiymet Güven

Pol J Microbiol· July 2015

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Diversity of acidophilic prokaryotes at two acid mine drainage sites in Turkey.
Pınar Aytar, Catherine Melanie Kay, Mehmet Burçin Mutlu, Ahmet Çabuk, David Barrie Johnson

Environ Sci Pollut Res Int· April 2015

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Isolation and identification of selenite reducing archaea from Tuz (salt) Lake In Turkey.
Kıymet Güven, Mehmet Burçin Mutlu, Ceyhun Çırpan, Hatice Mehtap Kutlu

J Basic Microbiol· May 2013

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Prokaryotic diversity in Tuz Lake, a hypersaline environment in Inland Turkey.
Mehmet Burcin Mutlu, Manuel Martínez-García, Fernando Santos, Arantxa Peña, Kiymet Guven

FEMS Microbiol Ecol· September 2008

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